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KLHL17 kelch like family member 17 [ Homo sapiens (human) ]

Gene ID: 339451, updated on 5-Aug-2018

Summary

Official Symbol
KLHL17provided by HGNC
Official Full Name
kelch like family member 17provided by HGNC
Primary source
HGNC:HGNC:24023
See related
Ensembl:ENSG00000187961 Vega:OTTHUMG00000040721
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
The protein encoded by this gene is expressed in neurons of most regions of the brain. It contains an N-terminal BTB domain, which mediates dimerization of the protein, and a C-terminal Kelch domain, which mediates binding to F-actin. This protein may play a key role in the regulation of actin-based neuronal function. [provided by RefSeq, Aug 2010]
Expression
Ubiquitous expression in testis (RPKM 3.5), skin (RPKM 2.8) and 24 other tissues See more
Orthologs

Genomic context

See KLHL17 in Genome Data Viewer
Location:
1p36.33
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (960103..965719)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (895967..901099)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene collagen alpha-1(III) chain-like Neighboring gene sterile alpha motif domain containing 11 Neighboring gene NOC2 like nucleolar associated transcriptional repressor Neighboring gene pleckstrin homology domain containing N1 Neighboring gene PPARGC1 and ESRR induced regulator, muscle 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
POZ domain binding IEA
Inferred from Electronic Annotation
more info
 
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex scaffold activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton organization ISS
Inferred from Sequence or Structural Similarity
more info
 
brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin cytoskeleton ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
dendrite cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
kelch-like protein 17
Names
actinfilin
kelch-like 17

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027546.1 RefSeqGene

    Range
    5001..10133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198317.2NP_938073.1  kelch-like protein 17

    See identical proteins and their annotated locations for NP_938073.1

    Status: REVIEWED

    Source sequence(s)
    AA774437, AY423763, CA432461
    Consensus CDS
    CCDS30550.1
    UniProtKB/Swiss-Prot
    Q6TDP4
    Related
    ENSP00000343930.3, OTTHUMP00000038433, ENST00000338591.7, OTTHUMT00000097875
    Conserved Domains (6) summary
    smart00612
    Location:437483
    Kelch; Kelch domain
    PHA03098
    Location:92558
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:426469
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:82186
    BTB; BTB/POZ domain
    pfam01344
    Location:378423
    Kelch_1; Kelch motif
    pfam07707
    Location:194295
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    960103..965719
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710600.3XP_006710663.1  kelch-like protein 17 isoform X1

    Conserved Domains (6) summary
    smart00612
    Location:460506
    Kelch; Kelch domain
    PHA03098
    Location:92581
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:449492
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:82186
    BTB; BTB/POZ domain
    pfam01344
    Location:401446
    Kelch_1; Kelch motif
    pfam07707
    Location:194318
    BACK; BTB And C-terminal Kelch
  2. XM_006710601.3XP_006710664.1  kelch-like protein 17 isoform X2

    Conserved Domains (3) summary
    smart00225
    Location:93189
    BTB; Broad-Complex, Tramtrack and Bric a brac
    pfam00651
    Location:82186
    BTB; BTB/POZ domain
    pfam07707
    Location:194318
    BACK; BTB And C-terminal Kelch

RNA

  1. XR_001737138.1 RNA Sequence

  2. XR_426605.3 RNA Sequence

  3. XR_426604.3 RNA Sequence

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